scholarly journals Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Ha Trang ◽  
Pauline Bourgeois ◽  
Fawzia Cheliout-Heraut
Keyword(s):  
Working Memory ◽  
Processing Speed ◽  
Intelligence Quotient ◽  
Statistical Significance ◽  
Full Scale ◽  
Congenital Central Hypoventilation Syndrome ◽  
Full Scale Intelligence Quotient ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Ventilation Method

Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mutations which are polyalanine repeats of various lengths in most of the cases. A few previous studies have reported learning difficulties and neuropsychological disorders in patients with CCHS. The aims of the present study were (1) to explore the intellectual abilities of a group of children with CCHS followed up in the centre of reference for CCHS in France using the Wechsler batteries of tests, (2) and to assess whether there was any association between CCHS characteristics and various domains of the intellectual functioning. Results There were 34 consecutive patients (15 males, 19 females) of mean (SD) age of 7.8 (3.8) years, ranging from 4 to 16 years and 6 months. Mean score of full-scale intelligence quotient was 82 (20), being in the low average range. Indexes of working memory and processing speed were significantly lower as compared to the other Wechsler indexes. There were two important findings: (1) full-scale intelligence quotient as well as indexes of verbal comprehension and processing speed were significantly greater in patients with mask ventilation than in those with tracheostomy ventilation (p = 0.012, 0.032 and 0.042 respectively); (2) most interestingly, in the patients with polyalanine repeats mutations, all intellectual indexes negatively correlated with the number of polyalanine expansion, with statistical significance reached for indexes of fluid reasoning and working memory (R = − 0.449, p = 0.032 and R = − 0.562, p = 0.012 respectively). Conclusions CCHS increased the risk to develop neurocognitive deficiencies, affecting particularly speed of processing and working memory. Our results suggested that both genetics and ventilation method could be also involved in the physiopathology of neurocognitive impairment. Further investigations were required to untangle the complex underlying processes. Neurocognitive assessments should be performed regularly in children with CCHS in order to plan re-education programs, adapt school integration and improve quality of life.

scholarly journals Cognitive performance of premature infants: association between bronchopulmonary dysplasia and cognitive skills. Cross-sectional study

2017 ◽  
Vol 135 (4) ◽  
pp. 383-390
Author(s):  
Rosane Reis de Mello ◽  
Ana Beatriz Rodrigues Reis ◽  
Kátia Silveira da Silva
Keyword(s):  
Cognitive Performance ◽  
Bronchopulmonary Dysplasia ◽  
Processing Speed ◽  
Intelligence Quotient ◽  
Cross Sectional Study ◽  
Full Scale ◽  
Care Hospital ◽  
Sectional Study ◽  
Cross Sectional ◽  
Full Scale Intelligence Quotient

ABSTRACT CONTEXT AND OBJECTIVE: Children born prematurely often have worse cognitive performance than those born at term regarding skills such as memory, attention and processing speed. Bronchopulmonary dysplasia may compromise cognitive development. The aims here were: a) To describe the cognitive performance of preterm infants with very low birth weight; b) To investigate its association with bronchopul-monary dysplasia adjusted for sociodemographic, neonatal and post-neonatal factors. DESIGN AND SETTING: Cross-sectional study developed in a public tertiary-care hospital. METHODS: To evaluate cognition among 112 children, we applied an intelligence scale (Wechsler scale). The average scores for children with and without bronchopulmonary dysplasia were compared across the fve domains of the scale. Associations with bronchopulmonary dysplasia were investigated for domains that showed signifcant diferences between the two groups. Associations between exposure and outcome were estimated via multivariate logistic regression. RESULTS: There were no diferences in averages for the full-scale intelligence quotient, verbal intelligence quotient, performance intelligence quotient and general language composite domains. The processing speed quotient was the only domain that presented a signifcant diference between the two groups (P = 0.02). Among the children with bronchopulmonary dysplasia, low full-scale intelligence quotient was observed in 28.1%. In the multivariate analysis, bronchopulmonary dysplasia (odds ratio: 3.1; 95conf-dence interval: 1.1-8.7) remained associated with the outcome of processing speed quotient. CONCLUSION: Bronchopulmonary dysplasia was an independent risk factor for alteration of the processing speed quotient.

scholarly journals Genetic mutation in Hirschsprungs/congenital central hypoventilation syndrome

2021 ◽  
Vol 69 ◽  
pp. 101861
Author(s):  
Christina Schreiner ◽  
Elisabeth Ralser ◽  
Christine Fauth ◽  
Ursula Kiechl-Kohlendorfer ◽  
Elke Griesmaier
Keyword(s):  
Genetic Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome

2014 ◽  
Vol 116 (4) ◽  
pp. 439-450 ◽  
Author(s):  
Michael S. Carroll ◽  
Pallavi P. Patwari ◽  
Anna S. Kenny ◽  
Cindy D. Brogadir ◽  
Tracey M. Stewart ◽  
...  
Keyword(s):  
Young Adults ◽  
Clinical Care ◽  
Neurodevelopmental Disorder ◽  
Control Group ◽  
Congenital Central Hypoventilation Syndrome ◽  
Specific Patient ◽  
Cerebrovascular Function ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Chemosensory Function

Congenital central hypoventilation syndrome (CCHS) is a neurodevelopmental disorder characterized by life-threatening hypoventilation, possibly resulting from disruption of central chemosensory integration. However, animal models suggest the possibility of residual chemosensory function in the human disease. Cardioventilatory function in a large cohort with CCHS and verified paired-like homeobox 2B ( PHOX2B) mutations was assessed to determine the extent and genotype dependence of any residual chemosensory function in these patients. As part of inpatient clinical care and evaluation, 64 distinct studies from 32 infants, children, and young adults with the disorder were evaluated for physiological response to three different inspired steady-state gas exposures of 3 min each: hyperoxia [100% oxygen (O2)]; hyperoxic hypercapnia [95% O2 and 5% carbon dioxide (CO2)]; and hypoxic hypercapnia [14% O2 and 7% CO2 balanced with nitrogen (N2)]. These were followed by a hypoxia challenge consisting of five or seven breaths of N2 (100% N2). In addition, a control group of 15 young adults was exposed to all but the hypoxic challenge. Comprehensive monitoring was used to derive breath-to-breath and beat-to-beat measures of ventilatory, cardiovascular, and cerebrovascular function. On average, patients showed a residual awake ventilatory response to chemosensory challenge, independent of the specific patient PHOX2B genotype. Graded dysfunction in cardiovascular regulation was found to associate with genotype, suggesting differential effects on different autonomic subsystems. In addition, differences between cases and controls in the cerebrovascular response to chemosensory challenge may indicate alterations in cerebral autoregulation. Thus residual cardiorespiratory responses suggest partial preservation of central nervous system networks that could provide a fulcrum for potential pharmacological interventions.

scholarly journals Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

2014 ◽  
Vol 2014 ◽  
pp. 1-8
Author(s):  
Karin Ljubič ◽  
Iztok Fister ◽  
Iztok Fister
Keyword(s):  
Ventilatory Support ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Controller ◽  
Future Challenges ◽  
The Central Nervous System ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Cardiovascular Functions

Congenital central hypoventilation syndrome is a disorder predisposed by a paired-like homebox PHOX2B gene. A mutation in the PHOX2B gene is a requisite when diagnosing congenital central hypoventilation syndrome. This mutation is identified in 93–100% of diagnosed patients. The mutation regarding this disorder affects the sensors, the central controller, and the integration of the signals within the central nervous system. This, inter alia, leads to insufficient ventilation and a decrease in PaO2, as well as an increase in PaCO2. Affected children are at risk during and after the neonatal period. They suffer from hypoventilation periods which may be present whilst sleeping only or in more severe cases when both asleep and awake. It is important for clinicians to perform an early diagnosis of congenital central hypoventilation in order to prevent the deleterious effects of hypoxaemia, hypercapnia, and acidosis on the neurocognitive and cardiovascular functions. Patients need long-term management and appropriate ventilatory support for improving the qualities of their lives. This paper provides a detailed review of congenital central hypoventilation syndrome, a congenital disorder that is genetic in origin. We describe the genetic basis, the wider clinical picture, and those challenges during the diagnosis and management of patients with this condition.

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